Case 63

given him a general examination and found no systemic

illness but has referred him to you for a further opinion.

Examination
Extraoral examination

A child with a
swollen face

The appearance of the child is shown in Figure 63.1. He

appears healthy but has obvious bilateral enlargement of
the side of the face. The temporomandibular joints appear
normal on palpation. Some upper deep cervical lymph
nodes are palpable bilaterally. They are only slightly
enlarged, not tender and are freely mobile.

On the basis of what you know, what types of lesion would

you consider?

SUMMARY
A 5-year-old boy has painless bilateral facial swellings. Identify the cause and recommend treatment.

From this view alone it is difficult to tell whether the swelling

originates in the salivary glands, mandible or soft tissues. Each
site would have different possible causes:
Condition

Possible causes

Soft tissue enlargement

Masseteric hypertrophy is possible. Bruxism is

common in children though significant
masseteric hypertrophy is rare.

Salivary gland enlargement

Rare in children. HIV salivary cystic disease is

seen in HIV infection. Mumps can be excluded.
Mumps is acute and, in addition, the child
would have had mumps vaccine with the rest of
the routine childhood vaccinations.

Enlargement of the mandible

A few rare inherited disorders of bone could

cause bilateral expansion of the ramus.

A developmental syndrome

Many syndromes have craniofacial signs and this

is a possibility which should be borne in mind.
There appear to be no associated features.

Intraoral examination
Fig. 63.1 The patients appearance at presentation.

History
Complaint
The patient is brought by his parents who have noticed that
his face has become fat. They are concerned about his
appearance and say that he is being teased and bullied at
school.

History of complaint
His parents say that the patient has had a chubby face since
he was a toddler but that the swelling has become more
noticeable over the last 2 years. He is in no pain.

Medical history
He is otherwise fit and well, has had all recommended
immunizations and amongst the childhood illnesses has
suffered only chicken pox. His medical practitioner has

Intraoral examination reveals a minimally restored dentition and healthy oral mucosa. Palpation of the mandibular
rami shows that they are the source of the enlargement.
There is obvious rounded swelling of the posterior body
and ramus of the mandible. The lower right second deciduous molar is missing.

Investigations
A radiograph is obviously required. Which view(s) would
you choose?
A dental panoramic radiograph is the investigation of
choice as an initial view. The whole of the swellings will be
visible and the left and right can be easily compared. A
posterioranterior view of the jaws would also be useful,
providing a second view at right angles to the ramus in the
panoramic view. It would allow mediolateral expansion to be
assessed.

The radiographic appearance is shown in Figure 63.2. What

are the radiographic features of the lesions?
See Table 63.1.

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A c h ild wi t h a s w o ll e n f ac e

Fig. 63.2 Dental panoramic radiograph.

Table 63.1 Radiographic features

Site

Bilaterally in the posterior body, angle and rami of the

mandible.

Size

Relatively large, about 5 8cm.

Shape

Lesions on both sides are multilocular.

Type of outline/edge

Smooth, well defined and well corticated.

Relative radiodensity

Radiolucent with internal radiopaque septa producing a

multilocular appearance. There are no dense radiopaque
inclusions.

Effects on adjacent structures

Gross displacement of the developing permanent second

molars. The lower right second primary molar has been lost,
presumably by exfoliation. There has been extensive
expansion of the height of the body of the mandible. The
condyles are not affected.

What further questions might help confirm your diagnosis?

Did either parent have a similar problem? Cherubism is
inherited in an autosomal dominant fashion. Radiographs of
both parents may reveal unsuspected healed lesions and this
would aid diagnosis.
Are any brothers or sisters affected? For similar reasons,
siblings would be expected to show similar signs.
How was the lower second deciduous molar lost?
Cherubism may cause early exfoliation of teeth.

Would any further radiographs help confirm the diagnosis?

More detailed radiographic examination with intraoral films
would be helpful for the following reasons.

Differential diagnosis
Give a differential diagnosis. Explain which is the most
likely cause and why.
Only a very short differential diagnosis is possible for this case.
Diagnosis

Similarity to present case

Cherubism

Causes bilateral radiolucencies in the mandibular rami and

maxilla. Enlargement starts in children before the age of 5
years. The lesions appear multilocular and radiolucent and
disrupt the dentition. The radiographic and facial appearances in
this case are characteristic.

Other possible
causes

There are a few very rare bone diseases and syndromes which
may need to be considered if the most likely diagnosis of
cherubism cannot be confirmed. Almost all other causes have
prominent signs elsewhere in the body and none has been
noted in this case.

To demonstrate involvement of the maxilla. More

severely affected patients usually have lesions in the
maxilla, usually centred on the tuberosity but sometimes
extending to distort the orbit. These can easily be missed
on extraoral films but, if present, confirm the diagnosis.
To identify displacement or destruction of teeth. As
noted above, cherubism often destroys tooth germs and
displaces teeth.

Is a biopsy required?
In a classical case of cherubism, the diagnosis may be made
with certainty on the basis of family history, clinical and
radiographic features. In a new case such as this, or if there
were no family history, it would be prudent to confirm that
the lesions are histologically compatible with cherubism.

A biospy specimen was removed from the expanded

alveolar ridge. The histological appearances are shown in
Figure 63.3. What do you see?
The lesion is composed of cellular fibrous tissue which
appears loose and oedematous with spaces rather than

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63

Diagnosis
Taken together, the evidence supports a diagnosis of
cherubism and this is a typical case.

Aetiology
What is the cause of cherubism?
Cherubism is caused by any one of several mutations in the
SH3BP2 gene, a regulator of the C-Abl oncogene, a poorly
understood signalling molecule involved in regulation of cell
division and many other cell functions.
Fig. 63.3 The histological appearance of the biopsy specimen.

dense collagen between the cells. Scattered in the fibrous

tissue are multinucleate giant cells. These are relatively small
giant cells and have only 48 nuclei each.

How do you interpret these appearances? Are they

consistent with cherubism?
Lesions with many giant cells fall into two broad categories,
those with granulomas, such as tuberculosis, sarcoidosis and
foreign body reactions, and the giant-cell lesions. No
granulomas are present and these appearances indicate a
giant-cell lesion, the causes of which are:

central giant-cell granuloma

brown tumour of hyperparathyroidism
aneurysmal bone cyst
cherubism.
These conditions cannot be distinguished from one
another on histological grounds alone. However, the only one
which matches the clinical and radiographic findings is
cherubism.

The condition is usually inherited in an autosomal dominant

fashion. It would be expected that one parent would be
similarly affected. Females are often less severely affected and
cases may appear to be sporadic.

Treatment
What treatment would you recommend? What other advice
would you give to the parents?
No treatment is required though the parents and child may
need reassurance. The parents can be told that lesions of
cherubism usually grow fastest before the age of 5. Although
there will be further growth during the next few years, the
lesions will stop growing spontaneously and start to regress
around the age of puberty. The swelling should have
completely resolved by the age of 25 and only radiographic
changes will remain into the fourth decade.
Surgical intervention is not usually necessary but may be
performed for cosmetic reasons if lesions resolve slowly. Some
teeth will be lost through the disease process. The parents
should also be warned that future children and siblings are
likely to be affected. Genetic counselling would be
appropriate.

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